RT Journal Article SR Electronic T1 Single molecule targeted sequencing for cancer gene mutation detection JF bioRxiv FD Cold Spring Harbor Laboratory SP 029686 DO 10.1101/029686 A1 Yan Gao A1 Liwei Deng A1 Qin Yan A1 Yongqian Gao A1 Zengding Wu A1 Jinsen Cai A1 Daorui Ji A1 Gailing Li A1 Ping Wu A1 Huan Jin A1 Luyang Zhao A1 Song Liu A1 Michael W. Deem A1 Jiankui He YR 2015 UL http://biorxiv.org/content/early/2015/10/23/029686.abstract AB With the rapid decline cost of sequencing, it is now clinically affordable to examine multiple genes in a single disease-targeted test using next generation sequencing. Current targeted sequencing methods require a separate step of targeted capture enrichment during sample preparation before sequencing, and the library preparation process is labor intensive and time consuming. Here, we introduced an amplification-free Single Molecule Targeted Sequencing (SMTS) technology, which combined targeted capture and sequencing in one step. We demonstrated that this technology can detect low-frequency mutations of cancer genes. SMTS has several advantages, namely that it requires little sample preparation and avoids biases and errors introduced by PCR reaction. SMTS can be applied in cancer gene mutation detection, inherited condition screening and noninvasive prenatal diagnosis.